The most common clinical manifestations of NLE are, in decreasing order of frequency, dermatologic, cardiac, and hepatic abnormalities [1
]. Some infants may also have hematologic, neurologic, or splenic abnormalities [5
]. One or more systems may be involved. Wisuthsarewong et al. performed a retrospective study to review clinical manifestations on 17 patients (10 girls and 7 boys) with NLE seen at the Department of Pediatrics, Siriraj Hospital from 1993 to 2008 [10
]. Cutaneous, cardiac, hepatobiliary, and hematological involvement was found in 70.6%, 64.7%, 52.9%, and 35.3% of infants, respectively.
Cutaneous lesions may be present at birth but often appear within the first few weeks of life [26
]. Annular erythematous or polycystic plaques with or without fine scales characterize NLE and appear predominately on the scalp, neck, or face (typically periorbital in distribution), but similar plaques may appear on the trunk or extremities [10
]. The dermatitis resembles the rash of subacute cutaneous lupus erythematosus rather than the malar rash of SLE [25
]. Periorbital erythema, referred to as “raccoon eye” or “owl eye,” is a very common characteristic [3
]. At times, the lesions may be urticarial, desquamative, ulcerative, or crusted [28
]. Bullous lesions may be seen with a particular predilection for the soles of the feet [25
In one study, cutaneous involvement was characterized as erythematous patches (91.7%), subacute cutaneous lupus erythematosus lesions (50%), petechiae (41.7%), persistent cutis marmorata (16.7%), and discoidal lesions (8.3%) [10
]. In some infants, solar exposure seems to precipitate the eruption [30
]. These lesions typically last for weeks or months and then resolve spontaneously consequent to the disappearance of maternal antibodies in the neonatal circulation [26
]. Active erythematous lesions after the first year of life should be suspect. Dyspigmentation is frequent but usually resolves spontaneously. Atrophic lesions and, rarely, atrophic scars may develop [10
]. Telangiectasia is often prominent and is the sole cutaneous manifestation reported in some patients. The atrophic telangiectatic changes are most evident near the temples and scalp and do not necessarily occur in the same sites as the erythematous lesions [26
]. The latter site may occasionally be associated with a permanent alopecia. Telangiectasia, scarring, and atrophic changes are expected to persist.
The cardiac manifestations include conduction abnormalities (first-, second-, and third-degree heart block) and cardiomyopathy [1
]. Third-degree heart block, once established, is usually irreversible [26
]. Congenital heart block may present as bradycardia noted in utero
or during physical examination at birth [24
]. Conduction disturbances may also present as irregular heartbeat and prolongation of the QT interval [24
]. Congenital heart block may be associated with endocardial fibroelastosis and cardiomyopathy [32
]. In some cases, myocarditis and pericarditis can develop which may lead to bradycardia. Heart failure is a well-recognized complication during the neonatal period.
The clinical pictures of hepatobiliary involvement may take the forms of elevation of liver enzymes (such as aspartate aminotransferase and alanine aminotransferase) and/or conjugated hyperbilirubinemia occurring a few weeks or months after birth and resolving thereafter. Some infants may have mild hepatomegaly and, less commonly, splenomegaly [25
]. The hepatomegaly and splenomegaly are usually transient. Cholestatic hepatitis and hepatic failure may also occur.
Hematologic disturbances (e.g., hemolytic anemia, thrombocytopenia, and neutropenia) may occur in the first 2 weeks of life. Infants with hematological involvement are usually asymptomatic [25
]. Autoantibodies, mainly anti-Ro, bind directly to the neutrophil and cause neutropenia. Thrombocytopenia may manifest as petechiae. Hematologic symptoms usually appear at around the second week of life and disappear by the end of the second month. Lymphopenia is a relatively common finding in adults with SLE but is not a characteristic hematologic abnormality of NLE [26
Other abnormalities such as hydrocephalus and macrocephaly may occur [33
]. Aseptic meningitis and myelopathy have rarely been reported [10
]. Pneumonitis may manifest as tachypnea and/or tachycardia.